Document Detail

Methylenetetrahydrofolate reductase C677T mutation and nonalcoholic fatty liver disease.
MedLine Citation:
PMID:  17356914     Owner:  NLM     Status:  MEDLINE    
A mutation in the methylenetetrahydrofolate reductase (MTHFR) gene is known as one of the causes of hyperhomocyteinemia. The oxidation products of homocysteine can initiate lipid peroxidation, which has a central role in the pathogenesis of nonalcoholic fatty liver disease (NAFLD). We aimed to assess the possible role of the MTHFR C677T mutation in the progression of simple steatosis to an advanced form of NAFLD. Thirty-four patients with NAFLD diagnosed by histologic analysis and 282 healthy controls were included in the study. The discrimination of nonalcoholic steatohepatitis (NASH) from another NAFLD was made by NAFLD activity score (NAS), and a NAS>or=5 was considered NASH. Patients with either NASH or nonalcoholic fatty liver (NAFL) and controls were evaluated for frequency of the MTHFR C677T mutation. The frequency of the MTHFR C677T mutation was 53.5% (CT, 44.7%; TT, 8.9%) in controls and 41.5% (CT, 37.7%; TT, 3.8%) in patients (odds ratio [OR], 0.62; 95% confidence interval [CI], 0.34-1.12). There was no statistical difference in the frequency of this genotype between patients with NAFL and those with NASH (36% [CT, 28%; TT, 8%] vs 46.4% [CT, 46.4; TT, 0%]; OR, 0.65; 95% CI, 0.22-1.96). According to this study, the MTHFR C677T mutation does not seem to be a risk factor for the progression of NAFL to NASH.
Ender Serin; Mustafa Güçlü; F Belgin Ataç; Hasibe Verdi; Fazilet Kayaselçuk; Birol Ozer; Banu Bilezikçi; Uğur Yilmaz
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2007-03-14
Journal Detail:
Title:  Digestive diseases and sciences     Volume:  52     ISSN:  0163-2116     ISO Abbreviation:  Dig. Dis. Sci.     Publication Date:  2007 May 
Date Detail:
Created Date:  2007-04-18     Completed Date:  2007-06-22     Revised Date:  2007-07-13    
Medline Journal Info:
Nlm Unique ID:  7902782     Medline TA:  Dig Dis Sci     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1183-6     Citation Subset:  AIM; IM    
Department of Gastroenterology, Baskent University Faculty of Medicine, Adana, Turkey.
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MeSH Terms
Case-Control Studies
Disease Progression
Fatty Liver / genetics*,  pathology
Gene Frequency
Genetic Predisposition to Disease
Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
Middle Aged
Odds Ratio
Risk Assessment
Risk Factors
Severity of Illness Index
Reg. No./Substance:
65-71-4/Thymine; 71-30-7/Cytosine; EC Reductase (NADPH2)

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